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Angelman Syndrome: Insights into Genomic Imprinting and Neurodevelopmental Phenotypes

Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent adva...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Mabb, Angela M., Judson, Matthew C., Zylka, Mark J., Philpot, Benjamin D.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3116240/
https://ncbi.nlm.nih.gov/pubmed/21592595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tins.2011.04.001
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